Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies.[2] The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs.[2][3] It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.[4][5]
The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated.[2][3] It can be associated with Johanson–Blizzard syndrome, Adams–Oliver syndrome, trisomy 13, and Wolf–Hirschhorn syndrome.[6]
It can also be seen with exposure to methimazole and carbimazole in utero.[7] This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.[8]
^RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Aplasia cutis congenita". www.orpha.net. Retrieved 22 August 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ abcMoss C, Shahidulla H. Naevi and other developmental defects. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th ed. United Kingdom (UK): Wiley-Blackwell Publication; 2010. p. 18, 18.98-18. 106.
^ abMeena N, Saxena AK, Sinha S, Dixit N. Aplasia cutis congenita with fetus papyraceus. Indian J Paediatr Dermatol 2015;16:48-9.
^Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6 ed.). McGraw-Hill. p. 650. ISBN 978-0-07-138076-8.
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10 ed.). Saunders. p. 572. ISBN 978-0-7216-2921-6.
^Online Mendelian Inheritance in Man (OMIM): 107600
^Rodríguez-García C; González-Hernández S; Hernández-Martín A; Pérez-Robayna N; Sánchez R; Torrelo A (2011). "Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy". Pediatric Dermatology. 28 (6): 743–745. doi:10.1111/j.1525-1470.2011.01572.x. PMID 21995270. S2CID 12300265.
^Malan, Valerie; et al. (2009). "array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically". Journal of Medical Genetics. 46 (9). J. Med. Genet.: 635–40. doi:10.1136/jmg.2008.062034. PMID 19126570. S2CID 8491797. Retrieved April 8, 2009.
and 16 Related for: Aplasia cutis congenita information
Aplasiacutiscongenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis...
final outcome is primarily determined by the underlying disorder. Aplasiacutiscongenita is a condition in which some or large portions of the skin is missing...
Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The...
Bart syndrome, also known as aplasiacutiscongenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence...
and Design and Philosophy. Karle was born with a rare condition, aplasiacutiscongenita, missing a large region of skin on her scalp and also missing bone...
groups: congenital or acquired. Congenital defects may include aplasiacutiscongenita, congenital nevus, congenital vascular malformations and congenital...
is associated with epidermolysis bullosa, pyloric atresia and aplasiacutiscongenita in the original Carmi syndrome patients". American Journal of Medical...
Sucking blisters - blisters on the hands of newborns due to sucking Aplasiacutiscongenita Most commonly these are primary cutaneous infections, caused by...
multiple congenital anomalies. This disorder is a distinct form of aplasiacutiscongenita presenting as multiple linear skin defects on the face and neck...
Global Information
